Is FLG p.Arg1891= (c.5671C>A) pathogenic?

FLG p.Arg1891= (c.5671C>A) is classified Likely benign in FLG (ClinVar, Single submitter, 1 submitter; last evaluated 2022-07-01). Ultra-rare (popmax 0.0362%, sas).

How common is FLG p.Arg1891= (c.5671C>A) in the general population?

FLG p.Arg1891= (c.5671C>A) is ultra-rare (popmax 0.0362%, sas) (gnomAD).

FLG p.Arg1891=

c.5671C>A · rs36006086 · VCV2639281

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0362%, sas)

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -2.3	GERP -1.4
Overall
CADD	0.492	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0362% South Asian · 33/91,048 alleles

Filtering AF 0.0265% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0231%

Overall 0.00223% 36/1,613,506 alleles · ultra-rare exomes 32/1,461,808 · genomes 4/151,698 · joint denominator

Ancestry group	Frequency	1 in
South Asiangrpmax	0.0362%	2,759
Remaining individualsnot grpmax-eligible	0.0016%	62,498
European (non-Finnish)	0.00017%	589,950

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: FLG
Protein: p.Arg1891=
Coding: c.5671C>A
MANE Select: NM_002016
dbSNP: rs36006086
Type: single nucleotide variant
Location: chr1:152309215 (GRCh38)

Full FLG gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/flg-p-arg1891 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown